Variant (rsID / SNP)
rs869320712
rs869320712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR73. Location: chromosome 15, position 85,186,950. Clinical significance in the table: Pathogenic.
Reference-table entries
WDR73Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 15:85186950
- Cytoband
- 15q25.2
- HGVS
- NM_032856.5(WDR73):c.888del (p.Phe296fs)
Associated conditions / phenotypes
Galloway-Mowat syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
